Haploinsufficiency of TBX1, encoding a Tbox transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge /22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whethe
β¦ LIBER β¦
22q11 Deletion Syndrome: A Role for TBX1 in Pharyngeal and Cardiovascular Development
β Scribed by Peter J. Scambler
- Book ID
- 105938546
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 351 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0172-0643
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## Abstract ## BACKGROUND: Children with 22q11.2 deletion syndrome (22q11.2DS) have a wide range of clinical features. __TBX1__ has been proposed as a candidate gene for some of the features in this condition. Polymorphisms in the nondeleted __TBX1,__ which may affect the function of the sole __TB
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